Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis

Ophthalmic Paediatr Genet. 1990 Sep;11(3):165-70. doi: 10.3109/13816819009020975.


Linkage analysis was performed in six families segregating for X-linked ocular albinism of the Nettleship-Falls type using four polymorphic DNA markers from the distal Xp. Linkage was found between the disease locus (OA1) and the loci DXS237 (theta max = 0.06, Zmax = 2.82), DXS278 (theta max = 0.03, Zmax = 5.27) and DXS16 (theta max = 0.10, Zmax = 2.33). The analysis of multiple informative meioses suggests that OA1 maps between DXS278/DXS237 and DXS143/DXS16. Multipoint linkage analysis slightly favours the order DXS278/DXS237-OA1-DXS16. These data refine the genetic localization of OA1 and may be useful for carrier detection in X-linked ocular albinism by DNA analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Albinism, Ocular / genetics*
  • Blotting, Southern
  • DNA Probes
  • Female
  • Genetic Linkage / genetics*
  • Genetic Markers / genetics
  • Genotype
  • Humans
  • Male
  • Pedigree
  • X Chromosome*


  • DNA Probes
  • Genetic Markers